Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

245 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Abnormalities of the corpus callosum. Can prenatal imaging predict the genetic status? Correlations between imaging phenotype and genotype.
Nguyen T, Heide S, Guilbaud L, Valence S, Perre SV, Blondiaux E, Keren B, Quenum-Miraillet G, Jouannic JM, Mandelbrot L, Picone O, Guet A, Tsatsaris V, Milh M, Girard N, Vincent M, Nizon M, Poirsier C, Vivanti A, Benachi A, Portes VD, Guibaud L, Patat O, Spentchian M, Frugère L, Héron D, Garel C. Nguyen T, et al. Among authors: heide s. Prenat Diagn. 2023 Jun;43(6):746-755. doi: 10.1002/pd.6382. Epub 2023 May 23. Prenat Diagn. 2023. PMID: 37173814
ARID1B mutations are the major genetic cause of corpus callosum anomalies in patients with intellectual disability.
Mignot C, Moutard ML, Rastetter A, Boutaud L, Heide S, Billette T, Doummar D, Garel C, Afenjar A, Jacquette A, Lacombe D, Verloes A, Bole-Feysot C, Nitschké P, Masson C, Faudet A, Lesne F, Bienvenu T, Alby C, Attié-Bitach T, Depienne C, Nava C, Héron D. Mignot C, et al. Among authors: heide s. Brain. 2016 Nov 1;139(11):e64. doi: 10.1093/brain/aww181. Brain. 2016. PMID: 27474218 No abstract available.
Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance.
Marsh AP, Heron D, Edwards TJ, Quartier A, Galea C, Nava C, Rastetter A, Moutard ML, Anderson V, Bitoun P, Bunt J, Faudet A, Garel C, Gillies G, Gobius I, Guegan J, Heide S, Keren B, Lesne F, Lukic V, Mandelstam SA, McGillivray G, McIlroy A, Méneret A, Mignot C, Morcom LR, Odent S, Paolino A, Pope K, Riant F, Robinson GA, Spencer-Smith M, Srour M, Stephenson SE, Tankard R, Trouillard O, Welniarz Q, Wood A, Brice A, Rouleau G, Attié-Bitach T, Delatycki MB, Mandel JL, Amor DJ, Roze E, Piton A, Bahlo M, Billette de Villemeur T, Sherr EH, Leventer RJ, Richards LJ, Lockhart PJ, Depienne C. Marsh AP, et al. Among authors: heide s. Nat Genet. 2017 Apr;49(4):511-514. doi: 10.1038/ng.3794. Epub 2017 Feb 27. Nat Genet. 2017. PMID: 28250454 Free PMC article.
Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU.
Depienne C, Nava C, Keren B, Heide S, Rastetter A, Passemard S, Chantot-Bastaraud S, Moutard ML, Agrawal PB, VanNoy G, Stoler JM, Amor DJ, Billette de Villemeur T, Doummar D, Alby C, Cormier-Daire V, Garel C, Marzin P, Scheidecker S, de Saint-Martin A, Hirsch E, Korff C, Bottani A, Faivre L, Verloes A, Orzechowski C, Burglen L, Leheup B, Roume J, Andrieux J, Sheth F, Datar C, Parker MJ, Pasquier L, Odent S, Naudion S, Delrue MA, Le Caignec C, Vincent M, Isidor B, Renaldo F, Stewart F, Toutain A, Koehler U, Häckl B, von Stülpnagel C, Kluger G, Møller RS, Pal D, Jonson T, Soller M, Verbeek NE, van Haelst MM, de Kovel C, Koeleman B, Monroe G, van Haaften G; DDD Study; Attié-Bitach T, Boutaud L, Héron D, Mignot C. Depienne C, et al. Among authors: heide s. Hum Genet. 2017 Apr;136(4):463-479. doi: 10.1007/s00439-017-1772-0. Epub 2017 Mar 10. Hum Genet. 2017. PMID: 28283832 Free PMC article.
Copy Number Variations Found in Patients with a Corpus Callosum Abnormality and Intellectual Disability.
Heide S, Keren B, Billette de Villemeur T, Chantot-Bastaraud S, Depienne C, Nava C, Mignot C, Jacquette A, Fonteneau E, Lejeune E, Mach C, Marey I, Whalen S, Lacombe D, Naudion S, Rooryck C, Toutain A, Caignec CL, Haye D, Olivier-Faivre L, Masurel-Paulet A, Thauvin-Robinet C, Lesne F, Faudet A, Ville D, des Portes V, Sanlaville D, Siffroi JP, Moutard ML, Héron D. Heide S, et al. J Pediatr. 2017 Jun;185:160-166.e1. doi: 10.1016/j.jpeds.2017.02.023. Epub 2017 Mar 8. J Pediatr. 2017. PMID: 28284480
Using medical exome sequencing to identify the causes of neurodevelopmental disorders: Experience of 2 clinical units and 216 patients.
Chérot E, Keren B, Dubourg C, Carré W, Fradin M, Lavillaureix A, Afenjar A, Burglen L, Whalen S, Charles P, Marey I, Heide S, Jacquette A, Heron D, Doummar D, Rodriguez D, Billette de Villemeur T, Moutard ML, Guët A, Xavier J, Périsse D, Cohen D, Demurger F, Quélin C, Depienne C, Odent S, Nava C, David V, Pasquier L, Mignot C. Chérot E, et al. Among authors: heide s. Clin Genet. 2018 Mar;93(3):567-576. doi: 10.1111/cge.13102. Epub 2017 Oct 4. Clin Genet. 2018. PMID: 28708303 Free article.
Mosaic intragenic deletion of FBN2 and severe congenital contractural arachnodactyly.
Lavillaureix A, Heide S, Chantot-Bastaraud S, Marey I, Keren B, Grigorescu R, Jouannic JM, Gelot A, Whalen S, Héron D, Siffroi JP. Lavillaureix A, et al. Among authors: heide s. Clin Genet. 2017 Nov;92(5):556-558. doi: 10.1111/cge.13062. Epub 2017 Aug 1. Clin Genet. 2017. PMID: 28762477 Free article. No abstract available.
Prenatal exome sequencing in 65 fetuses with abnormality of the corpus callosum: contribution to further diagnostic delineation.
Heide S, Spentchian M, Valence S, Buratti J, Mach C, Lejeune E, Olin V, Massimello M, Lehalle D, Mouthon L, Whalen S, Faudet A, Mignot C, Garel C, Blondiaux E, Lefebvre M, Quenum-Miraillet G, Chantot-Bastaraud S, Milh M, Bretelle F, Portes VD, Guibaud L, Putoux A, Tsatsaris V, Spodenkiewic M, Layet V, Dard R, Mandelbrot L, Guet A, Moutton S, Gorce M, Nizon M, Vincent M, Beneteau C, Rocchisanni MA, Benachi A, Saada J, Attié-Bitach T, Guilbaud L, Maurice P, Friszer S, Jouannic JM, de Villemeur TB, Moutard ML, Keren B, Héron D. Heide S, et al. Genet Med. 2020 Nov;22(11):1887-1891. doi: 10.1038/s41436-020-0872-8. Epub 2020 Jun 22. Genet Med. 2020. PMID: 32565546 Free article.
245 results